gene

TOR1A

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about TOR1A: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

10Connections

0Hypotheses

0Analyses

4Outgoing

6Incoming

0Experiments

0Debates

Summary

Page for TOR1A Gene

View on Wiki →

No AI portrait yet

🧬 Gene Info

Gene Symbol	TOR1A
Full Name	Torsin-1A
Chromosome	9q34.11
Function	is a glutamate deletion (ΔE302/303) that causes early-onset generalized dystonia (DYT1), one of the most common hereditary movement disorders [2](https://pubmed.
Subcellular Localization	Torsin-1A exhibits distinctive subcellular localization:
Molecular Weight	38 kDa
Amino Acids	332 aa
UniProt ID	[O95631](https://www.uniprot.org/uniprot/O95631)
Ensembl ID	ENSG00000136827
OMIM	605204
GeneCards	TOR1A
Human Protein Atlas	TOR1A
N-terminal domain	Signal peptide directing ER localization
ATPase domain	Classic AAA+Walker A (P-loop) and Walker B motifs
C-terminal region	Involved in protein-protein interactions
Associated Diseases	Als
KG Connections	10 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (2)

Knowledge base pages for this entity

Canonical Page

TOR1A Gene

gene · 3432 words

→

TOR1A Protein

protein · 943 words

→

Pathway Diagram

flowchart TD
    N0["TOR1A"]
    N1["Als"]
    N0 -->|"associated with"| N1
    N2["Depression"]
    N0 -->|"contributes to"| N2
    N3["Anxiety"]
    N0 -->|"contributes to"| N3
    N4["Actin"]
    N0 -->|"contributes to"| N4
    N5["GCH1"]
    N5 -->|"associated with"| N0
    N6["THAP1"]
    N6 -->|"associated with"| N0
    N7["ANO3"]
    N7 -->|"associated with"| N0
    N8["ANXIETY"]
    N8 -->|"contributes to"| N0
    N9["GNAL"]
    N9 -->|"associated with"| N0
    N10["DEPRESSION"]
    N10 -->|"contributes to"| N0
    N11["neurodegeneration"]
    N0 -->|"implicated in"| N11

    classDef gene fill:#1a3a2a,stroke:#4caf50,color:#e0e0e0
    classDef protein fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
    classDef disease fill:#3a1a1a,stroke:#ef5350,color:#e0e0e0
    classDef pathway fill:#2a1a3a,stroke:#ce93d8,color:#e0e0e0
    classDef mechanism fill:#2a2a1a,stroke:#ffd54f,color:#e0e0e0
    class N1 disease
    class N2 disease
    class N3 disease
    class N4 protein
    class N5 gene
    class N6 gene
    class N7 gene
    class N8 gene
    class N9 gene
    class N10 gene

Outgoing (4)

Target	Relation	Type	Str
Als	associated_with	disease	0.65
Depression	contributes_to	disease	0.65
Anxiety	contributes_to	disease	0.65
Actin	contributes_to	protein	0.60

Incoming (6)

Source	Relation	Type	Str
GCH1	associated_with	gene	0.60
THAP1	associated_with	gene	0.60
ANO3	associated_with	gene	0.60
GNAL	associated_with	gene	0.60
ANXIETY	contributes_to	gene	0.60
DEPRESSION	contributes_to	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning TOR1A in their description or question text

No additional research found